Genetic etiologies associated with non‐immune hydrops fetalis delineated by whole exome sequencing: A pilot series and its implications in prenatal genetic counseling

• Published in: The journal of obstetrics and gynaecology research Vol. 51; no. 8; pp. e70039 - n/a
• Main Authors: Lim, Zhu Wei, Ma, Gwo‐Chin, Chang, Ting‐Yu, Wu, Wan‐Ju, Lee, Mei‐Hui, Chen, Ming
• Format: Journal Article
• Language: English
• Published: Kyoto, Japan John Wiley & Sons Australia, Ltd 01.08.2025; Wiley Subscription Services, Inc
• Subjects: Adult; Diagnosis; Etiology; Exome Sequencing; Female; Fetuses; Genetic Counseling; Genetic screening; Humans; Hydrops fetalis; Hydrops Fetalis - diagnosis; Hydrops Fetalis - diagnostic imaging; Hydrops Fetalis - etiology; Hydrops Fetalis - genetics; Musculoskeletal diseases; non‐immune hydrops fetalis; Phenotypes; Pilot Projects; Pregnancy; prenatal diagnosis; Prenatal Diagnosis - methods; Retrospective Studies; single gene disorders; Ultrasonography, Prenatal; WES; whole exome sequencing; Whole genome sequencing; single gene disorders; WES; prenatal diagnosis; non‐immune hydrops fetalis; whole exome sequencing

Aim Non‐immune hydrops fetalis (NIHF) is a spectrum of disease involving heterogeneous etiologies. Prenatal application of whole exome sequencing (WES) has emerged as a valuable tool to decipher genetic causes in structural abnormalities detected by fetal ultrasound. Here, we reviewed index cases of...